Chester B. Whitley
Pediatrics | Medical Genetics
12th Flr, East Bld 2450 Riverside Ave
Minneapolis, MN 55454
Minneapolis, MN 55454
Last Updated: 09/26/2026
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Found 107 publications
RNA activation as a precision dosing modality: MTL-CEBPA for controlled enzyme elevation in MPS I-H.
RNA activation as a precision dosing modality: MTL-CEBPA for controlled enzyme elevation in MPS I-H.
Journal: Frontiers in medicine
Published: February 18, 2026
Glycoproteinoses: Clinical features, therapeutic landscape, and regulatory pathways in rare lysosomal disorders.
Journal: Molecular genetics and metabolism
Published: February 06, 2026
Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis.
Journal: International journal of neonatal screening
Published: January 07, 2026
CSF GAG non-reducing ends in MPS IH after peripheral and brain-penetrating therapies: A model comparing IV non-targeted ERT and HCT.
Journal: Molecular therapy. Advances
Published: August 27, 2025
Fabry disease and evolving story of I198T and A143T: Variants of varying clinical consequence (VVCC).
Journal: Molecular genetics and metabolism
Published: May 18, 2025
Pegvaliase therapy for phenylketonuria: Real-world safety, efficacy, and medication access outcomes in a pharmacist-led pegvaliase program.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 18, 2024
Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study.
Journal: Molecular genetics and metabolism reports
Published: October 21, 2024
Phenotypic variability and the gender paradox in the R363C variant of Fabry disease.
Journal: JIMD reports
Published: October 14, 2024
Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension.
Journal: Molecular genetics and metabolism
Published: October 03, 2024
Intrathecal or intravenous AAV9-IDUA/RGX-111 at minimal effective dose prevents cardiac, skeletal and neurologic manifestations of murine MPS I.
Journal: Molecular therapy. Methods & clinical development
Published: June 24, 2024
Addressing the Multisystemic Impacts of Nephropathic Cystinosis in an Adult.
Journal: Kidney international reports
Published: June 07, 2024
Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight.
Journal: American journal of medical genetics. Part A
Published: June 06, 2024
Last Updated: 09/26/2026